Results 71 to 80 of about 666,024 (276)

Inverse correlation of population similarity and introduction date for invasive ascidians. [PDF]

PLoS ONE, 2008
The genomes of many marine invertebrates, including the purple sea urchin and the solitary ascidians Ciona intestinalis and Ciona savignyi, show exceptionally high levels of heterozygosity, implying that these populations are highly polymorphic. Analysis
Nathan Silva, William C Smith
doaj   +1 more source

Association between Endothelial Selectin (E-selectin) gene polymorphisms and E-selectin level with visceral leishmaniais, in an ARMS-PCR based study [PDF]

, 2008
Background: In the visceral leishmaniasis (VL), parasites reside in reticuluendothelial system, mainly in macrophages. Endothelial Selectin (E-selectin) might play an important role in leukocyte-endothelium interactions and inflammatory cell recruitment.
Bazmani, A., Fallah, M., Hajilooi, M., Mazloumi Gavgani, A., Taherkhani, H.   +4 more
core  

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis [PDF]

, 2007
Background Vascular endothelial growth factor (VEGF) has neurotrophic activity which is mediated by its main agonist receptor, VEGFR2. Dysregulation of VEGF causes motor neurone degeneration in a mouse model of amyotrophic lateral sclerosis (ALS), and
Brockington, A., Hartley, J., Nixon, H., Shaw, P.J., Wokke, B.   +4 more
core   +3 more sources

RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno, Giovanni Ermanis, Christian Lettieri, Andrea Bernardini, Gaia Pellitteri, Enrico Belgrado, Elena Betto, Gian Luigi Gigli, David De Monte, Marco Domenico Scanni, Marco Mucchiut, Giuseppe Damante, Mariarosaria Valente, Francesco Janes   +13 more
wiley   +1 more source

Genetic Polymorphisms

, 2020
Abstract Chapter 1 provides a brief introduction to genes and how they work for those without the necessary background or for review. Its emphasis is on the major types of genetic polymorphisms including single-nucleotide polymorphisms (SNPs), allele and genotype frequencies, and the utility of genetic polymorphisms in studying the ...
Votinov, Mikhail, Goerlich, Katharina Sophia   +1 more
  +6 more sources

Variants in candidate genes and their interactions with smoking on the risk of acute coronary syndrome

Biomédica: revista del Instituto Nacional de Salud
Introduction. Multiple genetic and environmental factors interact with the development of acute coronary syndrome. Smoking is one of the environmental factors that might alter the metabolic pathways shared by genes associated with this condition ...
Liliana Franco, Natalia Gallego, Cristian Velarde, Diana Valencia, Juan Pablo Pérez-Bedoya, Kelly Betancur, Kelly Marisancen, Paola Parra, Santiago Carvalho, Luisa Parra, Evert Jiménez, Carlos Martínez, Clara Saldarriaga, Juan Carlos Arango, Nathalia González-Jaramillo, Jenny García, Ana Valencia   +16 more
doaj   +1 more source

Genes as Cues of Relatedness and Social Evolution in Heterogeneous Environments. [PDF]

PLoS Computational Biology, 2016
There are many situations where relatives interact while at the same time there is genetic polymorphism in traits influencing survival and reproduction. Examples include cheater-cooperator polymorphism and polymorphic microbial pathogens.
Olof Leimar, Sasha R X Dall, Peter Hammerstein, John M McNamara   +3 more
doaj   +1 more source

Genetic diversity of peanut (Arachis hypogaea L.) and its wild relatives based on the analysis of hypervariable regions of the genome [PDF]

, 2004
BACKGROUND: The genus Arachis is native to a region that includes Central Brazil and neighboring countries. Little is known about the genetic variability of the Brazilian cultivated peanut (Arachis hypogaea, genome AABB) germplasm collection at the DNA ...
Ferreira, Marcio Elias, Hopkins, Mark S, Kresovich, Stephen, Mitchell, Sharon E, Moretzsohn, Marcio de Carvalho, Valls, Jose Francisco Montenegro   +5 more
core   +4 more sources